Canonical Allele Identifier: CA2654921645

Gene: COL18A1 SLC19A1

Linked Data

• gnomAD v4: 21-45511090-T-TACACAC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45511091_45511096dup , CM000683.2:g.45511091_45511096dup	GRCh38
NC_000021.8:g.46931005_46931010dup , CM000683.1:g.46931005_46931010dup	GRCh37
NC_000021.7:g.45755433_45755438dup	NCBI36
NG_011903.1:g.110900_110905dup
NG_028278.2:g.57048_57053dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.4234-20_4234-15dup (COL18A1)	ENSP00000347665.5:n.4234-20_4234-15dup
ENST00000651438.1:c.3694-20_3694-15dup (COL18A1) MANE Select	ENSP00000498485.1:n.3694-20_3694-15dup
ENST00000342220.9:c.1738-20_1738-15dup (COL18A1)	ENSP00000339118.5:n.1738-20_1738-15dup
ENST00000355480.9:c.4234-20_4234-15dup (COL18A1)	ENSP00000347665.5:n.4234-20_4234-15dup
ENST00000359759.8:c.4939-20_4939-15dup (COL18A1)	ENSP00000352798.4:n.4939-20_4939-15dup
ENST00000400337.6:c.3694-20_3694-15dup (COL18A1)	ENSP00000383191.2:n.3694-20_3694-15dup
ENST00000417954.5:c.498-12484_498-12479dup (SLC19A1)
ENST00000423214.1:c.648-20_648-15dup (COL18A1)
ENST00000473212.1:n.2020-20_2020-15dup (COL18A1)
ENST00000567670.5:c.1294-12484_1294-12479dup (SLC19A1)	ENSP00000457278.1:n.1294-12484_1294-12479...
NM_030582.3:c.4225-20_4225-15dup (COL18A1)	NP_085059.2:n.4225-20_4225-15dup
NM_130444.2:c.4930-20_4930-15dup (COL18A1)	NP_569711.2:n.4930-20_4930-15dup
NM_130445.3:c.3685-20_3685-15dup (COL18A1)	NP_569712.2:n.3685-20_3685-15dup
XM_011529707.1:c.1585-8127_1585-8122dup (SLC19A1)	XP_011528009.1:n.1585-8127_1585-8122dup
XM_017028445.2:c.1585-8127_1585-8122dup (SLC19A1)	XP_016883934.1:n.1585-8127_1585-8122dup
NM_030582.4:c.4225-20_4225-15dup (COL18A1)	NP_085059.2:n.4225-20_4225-15dup
NM_130444.3:c.4930-20_4930-15dup (COL18A1)	NP_569711.2:n.4930-20_4930-15dup
NM_130445.4:c.3685-20_3685-15dup (COL18A1)	NP_569712.2:n.3685-20_3685-15dup
NM_001379500.1:c.3694-20_3694-15dup (COL18A1) MANE Select	NP_001366429.1:n.3694-20_3694-15dup